Variant report

Variant	rs9684016
Chromosome Location	chr4:1320709-1320710
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:1319288-1323843	K562	blood:	n/a	n/a
2	STAT5A	chr4:1320545-1321011	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:1320674-1320724	HEEpiC	esophagus:	n/a
2	chr4:1320674-1320724	GM12878	blood:	n/a
3	chr4:1320674-1320724	ProgFib	skin:	n/a
4	chr4:1320674-1320724	HCM	heart:	n/a
5	chr4:1320674-1320724	ECC-1	luminal epithelium:	n/a
6	chr4:1320674-1320724	HRCEpiC	kidney:	n/a
7	chr4:1320674-1320724	LNCaP	prostate:	n/a
8	chr4:1320674-1320724	HL-60	blood:	n/a
9	chr4:1320674-1320724	HIPEpiC	eye:	n/a
10	chr4:1320674-1320724	PFSK-1	brain:	n/a
11	chr4:1320674-1320724	SK-N-SH_RA	brain:	n/a
12	chr4:1320674-1320724	AG04450	lung:	fetal
13	chr4:1320674-1320724	T-47D	breast:	n/a
14	chr4:1320674-1320724	NHBE	bronchial:	n/a
15	chr4:1320674-1320724	HMEC	breast:	n/a
16	chr4:1320674-1320724	GM12892	blood:	n/a
17	chr4:1320674-1320724	NHDF-neo	bronchial:	n/a
18	chr4:1320674-1320724	SK-N-SH	brain:	n/a
19	chr4:1320674-1320724	A549	lung:	n/a
20	chr4:1320674-1320724	HEK293	kidney:	embryo
21	chr4:1320674-1320724	Jurkat	blood:	n/a
22	chr4:1320674-1320724	HNPCEpiC	eye:	n/a
23	chr4:1320674-1320724	HepG2	liver:	n/a
24	chr4:1320674-1320724	MCF-7	breast:	n/a
25	chr4:1320674-1320724	BE2_C	brain:	n/a
26	chr4:1320674-1320724	PrEC	prostate:	n/a
27	chr4:1320674-1320724	AG04449	skin:	fetal
28	chr4:1320674-1320724	BJ	skin:	n/a
29	chr4:1320674-1320724	NH-A	brain:	n/a
30	chr4:1320674-1320724	GM06990	blood:	n/a
31	chr4:1320674-1320724	HRPEpiC	eye:	n/a
32	chr4:1320674-1320724	RPTEC	kidney:	n/a
33	chr4:1320674-1320724	HCF	heart:	n/a
34	chr4:1320674-1320724	U87	brain:	n/a
35	chr4:1320674-1320724	GM12891	blood:	n/a
36	chr4:1320674-1320724	MCF10A-Er-Src	breast:	n/a
37	chr4:1320674-1320724	HPAEpiC	pulmonary alveolar:	n/a
38	chr4:1320674-1320724	Caco-2	colon:	n/a
39	chr4:1320674-1320724	Hepatocyte	liver:	n/a
40	chr4:1320674-1320724	HCPEpiC	choroid plexus:	n/a
41	chr4:1320674-1320724	K562	blood:	n/a
42	chr4:1320674-1320724	AG10803	skin:	n/a
43	chr4:1320674-1320724	AG09309	skin:	n/a
44	chr4:1320674-1320724	SAEC	small airway:	n/a
45	chr4:1320674-1320724	SKMC	muscle:	n/a
46	chr4:1320674-1320724	Hela-S3	cervix:	n/a
47	chr4:1320674-1320724	HAEpiC	amniotic membrane:	n/a
48	chr4:1320674-1320724	HUVEC	blood vessel:	n/a
49	chr4:1320674-1320724	HCT-116	colon:	n/a
50	chr4:1320674-1320724	H1-hESC	embryonic stem cell:	embryo

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:1300397..1304694-chr4:1319400..1323043,4	K562	blood:
2	chr4:1313294..1315156-chr4:1320127..1321902,2	MCF-7	breast:
3	chr4:1317445..1321964-chr4:1322066..1326605,8	MCF-7	breast:
4	chr4:1282015..1284359-chr4:1319933..1321825,2	MCF-7	breast:

No data

Variant related genes	Relation type
MAEA	TF binding region
MAEA	CpG island
ENSG00000090316	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11726178	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11726179	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17164682	0.81[ASN][1000 genomes]
rs3749456	0.82[ASN][1000 genomes]
rs4974600	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs58552306	0.82[ASN][1000 genomes]
rs61073965	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6852717	0.81[ASN][1000 genomes]
rs73075548	0.82[ASN][1000 genomes]
rs73075553	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv822425	chr4:540105-1413799	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
2	nsv530490	chr4:614355-1399150	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	esv3339080	chr4:970630-1546223	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv878328	chr4:1141573-1990425	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
5	nsv878330	chr4:1147407-1523930	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
6	nsv461152	chr4:1159680-1415698	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
7	nsv593278	chr4:1159680-1415698	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
8	nsv997971	chr4:1191256-1518521	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
9	nsv461155	chr4:1203265-1352685	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
10	nsv593281	chr4:1203265-1352685	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
11	nsv593298	chr4:1244267-1342521	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
12	nsv878338	chr4:1277826-1358449	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
13	nsv878339	chr4:1277826-1363886	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
14	nsv878340	chr4:1277826-1386570	Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
15	nsv878341	chr4:1277826-1391400	Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
16	nsv1002635	chr4:1282603-1402761	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
17	nsv878342	chr4:1291337-1363886	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
18	nsv878343	chr4:1291337-1391400	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
19	nsv878344	chr4:1291337-1414684	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
20	nsv878345	chr4:1291337-1563920	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
21	nsv461157	chr4:1300077-1352685	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
22	nsv593301	chr4:1300077-1352685	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
23	nsv878346	chr4:1300077-1363886	Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
24	nsv878347	chr4:1300077-1866358	Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
25	nsv878348	chr4:1305269-1386570	Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
26	esv1833544	chr4:1305962-1327941	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
27	esv1794294	chr4:1307119-1817474	Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
28	nsv980177	chr4:1317488-1323519	Genic enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
29	nsv878349	chr4:1318132-1363886	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
30	nsv878350	chr4:1320023-1500753	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1303600-1339400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:1305000-1327200	Strong transcription	Cortex derived primary cultured neurospheres	brain
3	chr4:1305200-1326600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr4:1305200-1330200	Weak transcription	Fetal Heart	heart
5	chr4:1306000-1323400	Strong transcription	Fetal Muscle Trunk	muscle
6	chr4:1306200-1322200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr4:1308800-1321200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr4:1309200-1330400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr4:1310600-1321400	Strong transcription	Primary T helper cells PMA-I stimulated	--
10	chr4:1310800-1321800	Strong transcription	Primary T cells from cord blood	blood
11	chr4:1310800-1323200	Weak transcription	Psoas Muscle	Psoas
12	chr4:1311200-1321000	Weak transcription	Small Intestine	intestine
13	chr4:1311800-1321000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr4:1311800-1322400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr4:1312200-1321800	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr4:1313400-1320800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:1313600-1335600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:1314800-1323200	Strong transcription	Fetal Muscle Leg	muscle
19	chr4:1314800-1328200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr4:1314800-1335200	Strong transcription	Dnd41	blood
21	chr4:1315000-1325000	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr4:1315000-1335600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr4:1315200-1322600	Strong transcription	Esophagus	oesophagus
24	chr4:1315200-1323400	Strong transcription	Placenta	Placenta
25	chr4:1315200-1324000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
26	chr4:1315200-1335400	Strong transcription	Fetal Brain Female	brain
27	chr4:1315200-1335600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:1315200-1335600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr4:1315200-1335600	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr4:1315400-1321800	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr4:1315400-1322000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr4:1315400-1322000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr4:1315400-1322400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr4:1315400-1323000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr4:1315400-1323000	Strong transcription	Duodenum Mucosa	Duodenum
36	chr4:1315400-1325200	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr4:1315400-1328400	Strong transcription	Adipose Nuclei	Adipose
38	chr4:1315400-1329400	Strong transcription	Colonic Mucosa	Colon
39	chr4:1315400-1331800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr4:1315400-1332200	Strong transcription	Fetal Intestine Small	intestine
41	chr4:1315400-1335200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr4:1315400-1335400	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr4:1315400-1335400	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr4:1315600-1325200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr4:1315600-1325400	Strong transcription	Brain Hippocampus Middle	brain
46	chr4:1315600-1325800	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr4:1315600-1328200	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr4:1315600-1335400	Strong transcription	Brain Germinal Matrix	brain
49	chr4:1315600-1335600	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr4:1315800-1322200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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